Human Gene FGF7 (uc001zxn.3)
  Description: Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.
RefSeq Summary (NM_002009): The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The extent of this RefSeq transcript is supported by transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr15:49,715,375-49,779,523 Size: 64,149 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr15:49,716,495-49,776,701 Size: 60,207 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:49,715,375-49,779,523)mRNA (may differ from genome)Protein (194 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FGF7_HUMAN
DESCRIPTION: RecName: Full=Fibroblast growth factor 7; Short=FGF-7; AltName: Full=Heparin-binding growth factor 7; Short=HBGF-7; AltName: Full=Keratinocyte growth factor; Flags: Precursor;
FUNCTION: Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. Growth factor active on keratinocytes. Possible major paracrine effector of normal epithelial cell proliferation.
SUBUNIT: Interacts with FGFBP1. Interacts with FGFR2. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Epithelial cell.
SIMILARITY: Belongs to the heparin-binding growth factors family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FGF7
CDC HuGE Published Literature: FGF7
Positive Disease Associations: Goiter
Related Studies:
  1. Goiter
    Alexander Teumer et al. American journal of human genetics 2011, Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk., American journal of human genetics. [PubMed 21565293]

-  MalaCards Disease Associations
  MalaCards Gene Search: FGF7
Diseases sorted by gene-association score: mucositis (10), apert syndrome (7), bazex syndrome (5), cholesteatoma (5), familial progressive hyperpigmentation (4), congenital diaphragmatic hernia (4), clear cell acanthoma (4), dry eye syndrome (3), oncogenic osteomalacia (3), stomatitis (2), pfeiffer syndrome (2), prostate cancer (2), pulmonary fibrosis, idiopathic (1), ladd syndrome (1), muenke syndrome (1), hypophosphatemic rickets with hypercalciuria (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C093973 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one
  • C436083 2-(2-oxo-2-((3,7,11-trimethyl-2,6,10-dodecatrienyl)oxy)aminoethyl)phosphonic acid, (2,2-dimethyl-1-oxopropoxy)methyl ester sodium
  • D002251 Carbon Tetrachloride
  • D002784 Cholesterol
  • D004958 Estradiol
  • D006493 Heparin
  • D006497 Heparitin Sulfate
  • D008070 Lipopolysaccharides
  • D009151 Mustard Gas
  • C054105 ammonium trichloro(dioxoethylene-O,O'-)tellurate
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.09 RPKM in Cervix - Ectocervix
Total median expression: 249.17 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -118.70529-0.224 Picture PostScript Text
3' UTR -652.172822-0.231 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008996 - Cytokine_IL1-like
IPR002209 - GF_heparin-bd
IPR002348 - IL1_HBGF

Pfam Domains:
PF00167 - Fibroblast growth factor

SCOP Domains:
50353 - Cytokine

ModBase Predicted Comparative 3D Structure on P21781
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004713 protein tyrosine kinase activity
GO:0005088 Ras guanyl-nucleotide exchange factor activity
GO:0005104 fibroblast growth factor receptor binding
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0008201 heparin binding
GO:0016303 1-phosphatidylinositol-3-kinase activity
GO:0042056 chemoattractant activity
GO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity

Biological Process:
GO:0000165 MAPK cascade
GO:0007165 signal transduction
GO:0008284 positive regulation of cell proliferation
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0008544 epidermis development
GO:0009611 response to wounding
GO:0010463 mesenchymal cell proliferation
GO:0010469 regulation of receptor activity
GO:0010838 positive regulation of keratinocyte proliferation
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0031069 hair follicle morphogenesis
GO:0031532 actin cytoskeleton reorganization
GO:0034394 protein localization to cell surface
GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0046854 phosphatidylinositol phosphorylation
GO:0050679 positive regulation of epithelial cell proliferation
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0050918 positive chemotaxis
GO:0051549 positive regulation of keratinocyte migration
GO:0051781 positive regulation of cell division
GO:0051897 positive regulation of protein kinase B signaling
GO:0060445 branching involved in salivary gland morphogenesis
GO:0060501 positive regulation of epithelial cell proliferation involved in lung morphogenesis
GO:0060665 regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling
GO:0061033 secretion by lung epithelial cell involved in lung growth

Cellular Component:
GO:0005576 extracellular region
GO:0005794 Golgi apparatus


-  Descriptions from all associated GenBank mRNAs
  BC010956 - Homo sapiens fibroblast growth factor 7 (keratinocyte growth factor), mRNA (cDNA clone MGC:13629 IMAGE:4282925), complete cds.
AK313160 - Homo sapiens cDNA, FLJ93655, Homo sapiens fibroblast growth factor 7 (keratinocyte growthfactor) (FGF7), mRNA.
S81661 - Keratinocyte growth factor [human, mRNA, 1200 nt].
M60828 - Human keratinocyte growth factor mRNA, complete cds.
JD314761 - Sequence 295785 from Patent EP1572962.
JD374854 - Sequence 355878 from Patent EP1572962.
KJ901427 - Synthetic construct Homo sapiens clone ccsbBroadEn_10821 FGF7 gene, encodes complete protein.
AB590830 - Synthetic construct DNA, clone: pFN21AE1680, Homo sapiens FGF7 gene for fibroblast growth factor 7, without stop codon, in Flexi system.
CR542002 - Homo sapiens full open reading frame cDNA clone RZPDo834D1235D for gene FGF7, fibroblast growth factor 7 (keratinocyte growth factor); complete cds, without stopcodon.
HF548201 - Synthetic construct for SP1-human keratinocyte growth factor fusion protein.
JD561593 - Sequence 542617 from Patent EP1572962.
JD313896 - Sequence 294920 from Patent EP1572962.
JD486690 - Sequence 467714 from Patent EP1572962.
JD229892 - Sequence 210916 from Patent EP1572962.
JD046439 - Sequence 27463 from Patent EP1572962.
JD181845 - Sequence 162869 from Patent EP1572962.
JD181844 - Sequence 162868 from Patent EP1572962.
JD163110 - Sequence 144134 from Patent EP1572962.
JD538923 - Sequence 519947 from Patent EP1572962.
JD511316 - Sequence 492340 from Patent EP1572962.
JD419962 - Sequence 400986 from Patent EP1572962.
JD410696 - Sequence 391720 from Patent EP1572962.
JD228065 - Sequence 209089 from Patent EP1572962.
JD337266 - Sequence 318290 from Patent EP1572962.
JD063548 - Sequence 44572 from Patent EP1572962.
JD358759 - Sequence 339783 from Patent EP1572962.
JD077304 - Sequence 58328 from Patent EP1572962.
JD245631 - Sequence 226655 from Patent EP1572962.
JD250842 - Sequence 231866 from Patent EP1572962.
JD285143 - Sequence 266167 from Patent EP1572962.
JD145479 - Sequence 126503 from Patent EP1572962.
JD296281 - Sequence 277305 from Patent EP1572962.
JD304432 - Sequence 285456 from Patent EP1572962.
JD077320 - Sequence 58344 from Patent EP1572962.
JD403632 - Sequence 384656 from Patent EP1572962.
JD378882 - Sequence 359906 from Patent EP1572962.
JD432214 - Sequence 413238 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04810 - Regulation of actin cytoskeleton
hsa05200 - Pathways in cancer
hsa05218 - Melanoma

Reactome (by CSHL, EBI, and GO)

Protein P21781 (Reactome details) participates in the following event(s):

R-HSA-2033472 FGFR2c mutants bind an expanded range of ligands
R-HSA-5656070 FGFBPs bind FGFs
R-HSA-2033474 FGFR2b mutants bind an expanded range of ligands
R-HSA-2077421 FP-1039 acts as a ligand-trap for FGFR2b-binding ligands in endometrial cancer
R-HSA-2033486 Autocatalytic phosphorylation of FGFR2c mutants with enhanced ligand binding
R-HSA-190408 Autocatalytic phosphorylation of FGFR2b
R-HSA-2033488 Autocatalytic phosphorylation of FGFR2b mutants with enhanced ligand binding
R-HSA-2077424 Point mutants of FGFR2 bind and are inactivated by tyrosine kinase inhibitors
R-HSA-5655339 Activated FGFR2 mutants bind FRS2
R-HSA-5655343 Activated FGFR2 mutants bind PLCG1
R-HSA-5654748 p-4Y-PLCG1 dissociates from activated FGFR2 mutants
R-HSA-5654159 Activated FGFR2 binds PLCG1
R-HSA-5654399 Activated FGFR2 binds FRS2
R-HSA-5654404 Activated FGFR2 binds SHC1
R-HSA-5654603 Activated FGFR2 binds FRS3
R-HSA-5654157 p-4Y-PLCG1 dissociates from activated FGFR2
R-HSA-5655301 Activated FGFR2 mutants phosphorylate PLCG1
R-HSA-5655233 Activated FGFR2 mutants:p-FRS2 binds GRB2-SOS1
R-HSA-5655320 Activated FGFR2 mutants:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5655268 Activated FGFR2 mutants phosphorylate FRS2
R-HSA-5654147 Activated FGFR2 phosphorylates PLCG1
R-HSA-5654397 Activated FGFR2 phosphorylates FRS2
R-HSA-5654562 Activated ERK1/2 threonine-phosphorylates FGFR2-associated FRS2
R-HSA-5654612 Activated FGFR2:p-FRS2 binds GRB2:GAB1:PIK3R1
R-HSA-5654605 Activated FGFR2 phosphorylates FRS3
R-HSA-5654407 Activated FGFR2 phosphorylates SHC1
R-HSA-5654406 Activated FGFR2:p-SHC1 binds GRB2:SOS1
R-HSA-5655245 Activated FGFR2 mutants:p-FRS2:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5654620 Activated FGFR2:p-FRS2:p-PPTN11 binds GRB2:GAB1:PI3KR1
R-HSA-5654729 p-CBL:GRB2 binds p-FRS2:activated FGFR2
R-HSA-5654614 Activated FGFR2:p-FRS2:GRB2:GAB1:PI3KR1 binds PIK3CA
R-HSA-5654608 Activated FGFR2:p-FRS bind to PPTN11
R-HSA-5654615 Activated FGFR2:pFRS binds GRB2:SOS1
R-HSA-5655241 Activated FGFR2 mutants:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5654622 Activated FGFR2:p-FRS2:p-PPTN11:GRB2:GAB1:PIK3R1 binds PIK3CA
R-HSA-5654677 CBL ubiquitinates FRS2 and FGFR2
R-HSA-5654607 Activated FGFR2 phosphorylates PPTN11
R-HSA-5654402 Activated FGFR2:p-SHC1:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5655323 Activated FGFR2 mutant-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654701 FGFR2-associated PI3K phosphorylates PIP2 to PIP3
R-HSA-5654618 Activated FGFR2:p-FRS2:GRB2:SOS1 activates RAS nucleotide exchange
R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange
R-HSA-5654697 FGFR2- and PTPN11- associated PI3K phosphorylates PIP2 to PIP3
R-HSA-2400009 PI3K inhibitors block PI3K catalytic activity
R-HSA-2316434 PI3K phosphorylates PIP2 to PIP3
R-HSA-109699 PI3K-containing complexes phosphorylate PIP2 to PIP3
R-HSA-190377 FGFR2b ligand binding and activation
R-HSA-2033519 Activated point mutants of FGFR2
R-HSA-190241 FGFR2 ligand binding and activation
R-HSA-1839126 FGFR2 mutant receptor activation
R-HSA-5654738 Signaling by FGFR2
R-HSA-5655253 Signaling by FGFR2 in disease
R-HSA-5654221 Phospholipase C-mediated cascade; FGFR2
R-HSA-5654700 FRS-mediated FGFR2 signaling
R-HSA-5654699 SHC-mediated cascade:FGFR2
R-HSA-190236 Signaling by FGFR
R-HSA-1226099 Signaling by FGFR in disease
R-HSA-5654727 Negative regulation of FGFR2 signaling
R-HSA-5654695 PI-3K cascade:FGFR2
R-HSA-5654696 Downstream signaling of activated FGFR2
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-5663202 Diseases of signal transduction
R-HSA-162582 Signal Transduction
R-HSA-1643685 Disease
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-2219530 Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-109704 PI3K Cascade
R-HSA-2219528 PI3K/AKT Signaling in Cancer
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-199418 Negative regulation of the PI3K/AKT network
R-HSA-5683057 MAPK family signaling cascades
R-HSA-112399 IRS-mediated signalling
R-HSA-74751 Insulin receptor signalling cascade
R-HSA-2428928 IRS-related events triggered by IGF1R
R-HSA-74752 Signaling by Insulin receptor
R-HSA-2428924 IGF1R signaling cascade
R-HSA-2404192 Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)

-  Other Names for This Gene
  Alternate Gene Symbols: FGF7_HUMAN, KGF, NM_002009, NP_002000, P21781
UCSC ID: uc001zxn.3
RefSeq Accession: NM_002009
Protein: P21781 (aka FGF7_HUMAN)
CCDS: CCDS10131.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002009.3
exon count: 4CDS single in 3' UTR: no RNA size: 3936
ORF size: 585CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1124.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.